Fatal Esophageal Squamous Cell Carcinoma at a Young Age as a Complication of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Bibliographic record
Abstract
Objective: To report a rare case of esophageal squamous cell carcinoma (SCC) complicated by chronic mucocutaneous candidiasis (CMC) in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) to increase awareness of this association and to optimize CMC control in an effort to prevent this fatal complication. Methods: We report a case of fatal esophageal SCC in a young patient with APECED and CMC and the literature pertaining to this association. Results: A 34-year-old female with known APECED and oral CMC diagnosed in infancy presented with a 4-week history of progressive dysphagia and odynophagia on a background history of reflux esophagitis. Esophagogastroscopy revealed a diffusely necrotic esophagus with exudates. Biopsy revealed a poorly differentiated SCC and fungal spores compatible with Candida species. She was treated with micafungin for 4 weeks. Repeat endoscopy and biopsy confirmed esophageal SCC. The initial metastatic work-up was negative; however, she presented with hypercalcemia of malignancy secondary to bone metastasis 8 weeks later. She died 5 months after the initial diagnosis of SCC due to advanced disease. Conclusion: Our case highlights the risk of developing esophageal SCC at a young age as a fatal complication of CMC associated with APECED. The pathogenicity of SCC in APECED is not well understood, but there are several proposed mechanisms. Increased awareness of this complication among physicians involved in the care of these patients, particularly endocrinologists and gastroenterologists, is essential. Routine surveillance of the oropharynx and esophagus, aggressive control of CMC, and avoidance of extrinsic risk factors (e.g., smoking, alcohol) are critical for prevention. Abbreviations: AIRE autoimmune regulator APECED autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy CMC chronic mucocutaneous candidiasis SCC squamous cell carcinoma
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".